Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

(2020) Daniela del Gaudio et al.   GENETICS IN MEDICINE

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

(2020) Jennifer Malinowski et al.   GENETICS IN MEDICINE

Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: Results from 5026 pregnancies

(2019) Jia-Chi Wang et al.   PRENATAL DIAGNOSIS

Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays

(2018) Nicole Hoppman et al.   GENETICS IN MEDICINE

Runs of homozygosity: windows into population history and trait architecture

(2018) Francisco C. Ceballos et al.   NATURE REVIEWS GENETICS

A review of the reproductive consequences of consanguinity

(2018) Olubunmi Oniya et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease

(2018) Matthew Neil Wakeling et al.   GENETICS IN MEDICINE

Increasing the diagnostic yield of exome sequencing by copy number variant analysis

(2018) Daniel S. Marchuk et al.   PLoS One

Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias

(2017) Dana M. Bis et al.   Molecular Genetics & Genomic Medicine

Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations

(2016) M.A. Alabdullatif et al.   CLINICAL GENETICS

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

(2014) Jia-Chi Wang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Detection and Reporting of Homozygosity Associated with Consanguinity in the Clinical Laboratory

(2014) Kristen Lipscomb Sund et al.   HUMAN HEREDITY

The Effect of Consanguinity on Neonatal Outcomes and Health

(2014) Hussein A. Abbas et al.   HUMAN HEREDITY

Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness

(2013) Lauren Grote et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities

(2013) Heather Mason-Suares et al.   GENETICS IN MEDICINE

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

(2013) Sarah T. South et al.   GENETICS IN MEDICINE

American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

(2013) Catherine W. Rehder et al.   GENETICS IN MEDICINE

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

(2013) D. A. King et al.   GENOME RESEARCH

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray

(2013) Yao-Shan Fan et al.   Molecular Cytogenetics

Genomic Patterns of Homozygosity in Worldwide Human Populations

(2012) Trevor J. Pemberton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variability in laboratory reporting practices for regions of homozygosity indicating parental relatedness as identified by SNP microarray testing

(2012) Lauren Grote et al.   GENETICS IN MEDICINE

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

(2012) Kristen Lipscomb Sund et al.   GENETICS IN MEDICINE

A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents

(2012) Klaas J. Wierenga et al.   GENETICS IN MEDICINE

Autozygosity Mapping with Exome Sequence Data

(2012) Ian M. Carr et al.   HUMAN MUTATION

UPD detection using homozygosity profiling with a SNP genotyping microarray

(2011) Peter Papenhausen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations

(2011) Hutton M. Kearney et al.   CLINICS IN LABORATORY MEDICINE

Clinical Laboratory Implementation of Cytogenomic Microarrays

(2011) S.T. South et al.   CYTOGENETIC AND GENOME RESEARCH

Identification of incestuous parental relationships by SNP-based DNA microarrays

(2011) CP Schaaf et al.   LANCET

Uniparental disomy and human disease: An overview

(2010) Kazuki Yamazawa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

(2010) Laura K. Conlin et al.   HUMAN MOLECULAR GENETICS

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

(2009) Friedhelm Hildebrandt et al.   PLoS Genetics

Runs of Homozygosity in European Populations

(2008) Ruth McQuillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS